Crystalline nephropathy due to APRT deficiency: A preventable cause of renal and renal allograft failure

We report two cases of APRT deficiency from our center. DNA sequencing of APRT gene performed in one of the cases revealed a pathogenic variant in Exon1 of APRT gene (c.3G>C; p.Met1). This variant affects the translation initiation codon and results in a start loss. The variant has previously been reported in two cases with APRT deficiency.

Source: Indian Journal of Nephrology - August 19, 2020 Category: Urology & Nephrology Authors: Prashant Rajput Zaheer A Virani Bharat V Shah Source Type: research